Varaico: Literature-Extracted Genetic Variants

NTRK3

674 papers

RefSeq Summary

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of th...

Pfam Domains

LRRNTaa 31–58UCSCLeucine rich repeat N-terminal domain

LRR_8aa 103–162UCSCLeucine rich repeat

LRRCT_2aa 163–208UCSCLeucine rich repeat C-terminal motif

igaa 217–297UCSCImmunoglobulin domain

I-setaa 316–392UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 440–617UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

neurotrophic receptor tyrosine kinase 3

HGNC Alias Symbol

TRKC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001012338.3

p.Q389P

c.1166A>C

Surrounding Variants

2 papers

NM_001012338.3

p.Q389H

c.1167G>T

2 papers

NM_001012338.3

p.Q389H

c.1167G>C

1 paper

NM_001012338.3

p.Q389K

c.1165C>A

1 paper

NM_001012338.3

p.T390I

c.1169C>T

1 paper

NM_001012338.3

p.G385delFs

c.1154delC

1 paper

NM_001012338.3

p.G393V

c.1178G>T

1 paper

NM_001012338.3

p.G393D

c.1178G>A

1 paper

NM_001012338.3

p.G385fs

c.1153_1154fs

1 paper

NM_001012338.3

p.H394Q

c.1182C>G

1 paper

NM_001012338.3

p.H394Q

c.1182C>A

1 paper

NM_001012338.3

p.L384M

c.1150C>A

1 paper

NM_001012338.3

p.F395L

c.1183T>C